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Volumn 14, Issue 4, 2010, Pages 499-504

Cytogenetic analysis of 1572 cases of down syndrome: A report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DOUBLE TRISOMY; DOWN SYNDROME; EPICANTHUS; FACE DYSMORPHIA; FEMALE; HUMAN; INDIA; INFANT; KARYOTYPING; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MALE; MOSAICISM; MUSCLE HYPOTONIA; NEWBORN; PERIPHERAL LYMPHOCYTE; PRESCHOOL CHILD; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SCHOOL CHILD; TRISOMY 21;

EID: 77955868547     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0167     Document Type: Article
Times cited : (14)

References (37)
  • 2
    • 44649185588 scopus 로고    scopus 로고
    • A male case with double aneuploidy (48,XXY,+21)
    • Akbas E, Soylemez F, Sayasoglu K, et al. (2008) A male case with double aneuploidy (48,XXY,+21). Genet Couns 19:59-63.
    • (2008) Genet Couns , vol.19 , pp. 59-63
    • Akbas, E.1    Soylemez, F.2    Sayasoglu, K.3
  • 3
    • 34250850271 scopus 로고    scopus 로고
    • Cytogenetic and clinical profile of Down syndrome in North east Malaysia
    • Azman BZ, Ankathil R, Sitamariam I, et al. (2007) Cytogenetic and clinical profile of Down syndrome in North east Malaysia. Singapore Med J 48:550-554.
    • (2007) Singapore Med J , vol.48 , pp. 550-554
    • Azman, B.Z.1    Ankathil, R.2    Sitamariam, I.3
  • 4
    • 58549100511 scopus 로고    scopus 로고
    • Double trisomy with 48, XXX,+21 karyotype in a Down's syndrome child from Jammu and Kashmir
    • Balwan WK, Kumar P, Raina TR, Gupta S (2008) Double trisomy with 48, XXX,+21 karyotype in a Down's syndrome child from Jammu and Kashmir. Indian J Genet 87:257-259.
    • (2008) Indian J Genet , vol.87 , pp. 257-259
    • Balwan, W.K.1    Kumar, P.2    Raina, T.R.3    Gupta, S.4
  • 5
    • 77955899089 scopus 로고    scopus 로고
    • Cytogenetic profile of Down syndrome cases seen by a general genetics outpatient service in Brazil
    • doi: 10.3104/reports.2010
    • Biselli J, Goloni-Bertollo E, Ruiz M, Pavarino-Bertelli E (2008) Cytogenetic profile of Down syndrome cases seen by a general genetics outpatient service in Brazil. Down Syndrome Online; doi: 10.3104/reports.2010.
    • (2008) Down Syndrome Online
    • Biselli, J.1    Goloni-Bertollo, E.2    Ruiz, M.3    Pavarino-Bertelli, E.4
  • 6
    • 77955878669 scopus 로고
    • Cytogenetics of 70 cases of Down syndrome
    • Cho HC, Jeon HS (1993) Cytogenetics of 70 cases of Down syndrome. Korean J Clin Pathol 13:679-688.
    • (1993) Korean J Clin Pathol , vol.13 , pp. 679-688
    • Cho, H.C.1    Jeon, H.S.2
  • 7
    • 3142667923 scopus 로고    scopus 로고
    • Accuracy of the clinical diagnosis of Down syndrome Northern Ireland population
    • Devlin L, Morrison PJ (2004) Accuracy of the clinical diagnosis of Down syndrome Northern Ireland population. Ulster Med J 73:4-12.
    • (2004) Ulster Med J , vol.73 , pp. 4-12
    • Devlin, L.1    Morrison, P.J.2
  • 8
    • 61849098758 scopus 로고    scopus 로고
    • Down Syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13)
    • Dundar M, Saatci AOCC, Arslan K, Ozkul Y (2008) Down Syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13). Ind J Med Res 128:666-668.
    • (2008) Ind J Med Res , vol.128 , pp. 666-668
    • Dundar, M.1    Aocc, S.2    Arslan, K.3    Ozkul, Y.4
  • 9
    • 77955903925 scopus 로고    scopus 로고
    • First cytogenetic study of Down syndrome in Sudan
    • Ellaithi M, Nilsson T, Elagib A, et al. (2008) First cytogenetic study of Down syndrome in Sudan. J Dev Disabil 14:54-60.
    • (2008) J Dev Disabil , vol.14 , pp. 54-60
    • Ellaithi, M.1    Nilsson, T.2    Elagib, A.3
  • 10
    • 0037611125 scopus 로고    scopus 로고
    • The influence of paternal age on Down Syndrome
    • Fisch H, Hyun G, Golden R, et al. (2003) The influence of paternal age on Down Syndrome. J Urol 169:2275-2278.
    • (2003) J Urol , vol.169 , pp. 2275-2278
    • Fisch, H.1    Hyun, G.2    Golden, R.3
  • 11
    • 0029396290 scopus 로고
    • Diagnosis of genetic defects by chromosomal analysis
    • Ghani F, Maniar S, Khilji Z, et al. (1995) Diagnosis of genetic defects by chromosomal analysis. J Pak Med Assoc 45: 295-296.
    • (1995) J Pak Med Assoc , vol.45 , pp. 295-296
    • Ghani, F.1    Maniar, S.2    Khilji, Z.3
  • 13
    • 0020696212 scopus 로고
    • Chromosomal abnormality rates at amniocentesis and in live-born infants
    • Hook EB, Cross PK, Schreinemachers DM (1983) Chromosomal abnormality rates at amniocentesis and in live-born infants. J Am Med Assoc 249:2034-2038.
    • (1983) J Am Med Assoc , vol.249 , pp. 2034-2038
    • Hook, E.B.1    Cross, P.K.2    Schreinemachers, D.M.3
  • 14
    • 0003038545 scopus 로고
    • Epidemiology of Down syndrome
    • Pueschel SM, Rynders JE (eds) Cambridge: Ware Press
    • Hook EG (1982) Epidemiology of Down syndrome. In: Pueschel SM, Rynders JE (eds) Down Syndrome: Adv Biomed Behav Sci. Cambridge: Ware Press, pp 11-88.
    • (1982) Down Syndrome: Adv Biomed Behav Sci , pp. 11-88
    • Hook, E.G.1
  • 16
    • 77955883331 scopus 로고
    • Cytogenetic study of 103 cases o f Down's syndrome from Hiroshima district
    • Kadotani T, Ohama K, Takahara H, et al. (1972) Cytogenetic study of 103 cases o f Down's syndrome from Hiroshima district. Proc Jpn Acad 48:252-257.
    • (1972) Proc Jpn Acad , vol.48 , pp. 252-257
    • Kadotani, T.1    Ohama, K.2    Takahara, H.3
  • 18
    • 32044438746 scopus 로고    scopus 로고
    • Maternal age and chromosomal profile in 160 Down syndrome cases-experience of a tertiary genetic centre from India
    • Kothare S, Shetty N, Dave U (2002) Maternal age and chromosomal profile in 160 Down syndrome cases-experience of a tertiary genetic centre from India. Int J Hum Genet 2:49-53.
    • (2002) Int J Hum Genet , vol.2 , pp. 49-53
    • Kothare, S.1    Shetty, N.2    Dave, U.3
  • 19
    • 0018886288 scopus 로고
    • Down's syndrome in Wallonia (south Belgium) 1971-1978: Cytogenetics and incidence
    • Koulischer L, Gillerot Y (1980) Down's syndrome in Wallonia (south Belgium) 1971-1978: cytogenetics and incidence. Hum Genet 54:243-250.
    • (1980) Hum Genet , vol.54 , pp. 243-250
    • Koulischer, L.1    Gillerot, Y.2
  • 21
    • 62849113692 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21
    • Lyle R, Bena F, Gagos S, et al. (2009) Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 17:454-466.
    • (2009) Eur J Hum Genet , vol.17 , pp. 454-466
    • Lyle, R.1    Bena, F.2    Gagos, S.3
  • 22
    • 32044452864 scopus 로고    scopus 로고
    • Influence of advanced age of maternal grandmothers on Down syndrome
    • Malini SS, Ramachandra NB (2007) Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 7:4-8.
    • (2007) BMC Med Genet , vol.7 , pp. 4-8
    • Malini, S.S.1    Ramachandra, N.B.2
  • 23
    • 0013663724 scopus 로고
    • Chromosome preparation of leucocytes cultured from human peripheral blood
    • Moorhead PS, Nowell PC, Mellman, WJ, et al. (1960) Chromosome preparation of leucocytes cultured from human peripheral blood. Exp Cell Res 20:613-616.
    • (1960) Exp Cell Res , vol.20 , pp. 613-616
    • Moorhead, P.S.1    Nowell, P.C.2    Mellman, W.J.3
  • 24
  • 25
    • 0023409354 scopus 로고
    • Down syndrome in Ahmedabad: Karyotype analysis in 60 cases
    • Murthy SK, Murthy DSK, ShahVC, Desai AB (1987) Down syndrome in Ahmedabad: karyotype analysis in 60 cases. Indian J Pediatr 54:723-727.
    • (1987) Indian J Pediatr , vol.54 , pp. 723-727
    • Murthy, S.K.1    Dsk, M.2    Shahvc Desai, A.B.3
  • 26
    • 0029917626 scopus 로고    scopus 로고
    • Cytogenetic and epidemiological findings in own syndrome, England andWales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists
    • Mutton D, Alberman E, Hook EB (1996) Cytogenetic and epidemiological findings inDown syndrome, England andWales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. J Med Genet 33:387-394.
    • (1996) J Med Genet , vol.33 , pp. 387-394
    • Mutton, D.1    Alberman, E.2    Hook, E.B.3
  • 27
    • 0031029826 scopus 로고    scopus 로고
    • Down syndrome: Characterization of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH
    • Nadal M, Moreno S, Pritchand M, et al. (1997) Down syndrome: characterization of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH. J Med Genet 34:50-54.
    • (1997) J Med Genet , vol.34 , pp. 50-54
    • Nadal, M.1    Moreno, S.2    Pritchand, M.3
  • 28
    • 0028952368 scopus 로고
    • Down's syndrome in Saudi Arabia: Incidence and cytogenetics
    • Niazi MA, Al-Mazyad AS, Al-Husain MA, et al. (1995) Down's syndrome in Saudi Arabia: incidence and cytogenetics. Hum Hered 45:65-69.
    • (1995) Hum Hered , vol.45 , pp. 65-69
    • Niazi, M.A.1    Al-Mazyad, A.S.2    Al-Husain, M.A.3
  • 29
    • 35348987032 scopus 로고    scopus 로고
    • Genetic mechanisms in Down syndrome
    • Patterson D (2007) Genetic mechanisms in Down syndrome. MRDD Res Rev 13:199-206.
    • (2007) MRDD Res Rev , vol.13 , pp. 199-206
    • Patterson, D.1
  • 30
    • 55049090891 scopus 로고    scopus 로고
    • Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation
    • Pazarbasi A, Demirhan O, Turgut M, et al. (2008) Inheritance of a translocation between chromosomes 12 and 16 in a family with recurrent miscarriages and a newborn with Down syndrome carrying the same translocation. Genet Couns 19: 301-308.
    • (2008) Genet Couns , vol.19 , pp. 301-308
    • Pazarbasi, A.1    Demirhan, O.2    Turgut, M.3
  • 31
    • 0346463093 scopus 로고    scopus 로고
    • Multiple aneuploidies in the oocytes of balanced translocation carriers: A PGD study using 1PB
    • Pujjol A, Durban M, Benet J, et al. (2003) Multiple aneuploidies in the oocytes of balanced translocation carriers: a PGD study using 1PB. Reproduction 126:701-711.
    • (2003) Reproduction , vol.126 , pp. 701-711
    • Pujjol, A.1    Durban, M.2    Benet, J.3
  • 32
    • 8544257673 scopus 로고
    • A rapid banding technique for human chromosomes
    • Seabright MA (1971) A rapid banding technique for human chromosomes. Lancet 9:71-72.
    • (1971) Lancet , vol.9 , pp. 71-72
    • Seabright, M.A.1
  • 33
    • 77955886610 scopus 로고    scopus 로고
    • Cytogenetics epidemiology of Down syndrome in Iran: A forty years study
    • Presented at, Brisbane, Australia
    • Shariaty M, Nabipour I, Zangeneh F, et al. (2006) Cytogenetics epidemiology of Down syndrome in Iran: A forty years study. Presented at 11th International Congress of Human Genetics, Brisbane, Australia.
    • (2006) 11th International Congress of Human Genetics
    • Shariaty, M.1    Nabipour, I.2    Zangeneh, F.3
  • 34
    • 35648999970 scopus 로고    scopus 로고
    • Cytogenetic analysis of Down syndrome in Gujarat
    • Sheth F, Rao S, Desai M, et al. (2007) Cytogenetic analysis of Down syndrome in Gujarat. Indian Pediatr 44:774-777.
    • (2007) Indian Pediatr , vol.44 , pp. 774-777
    • Sheth, F.1    Rao, S.2    Desai, M.3
  • 35
    • 0034574375 scopus 로고    scopus 로고
    • Burden of genetic disorders in India
    • Verma IC (2000) Burden of genetic disorders in India. Indian J Pediatr 67:893-898.
    • (2000) Indian J Pediatr , vol.67 , pp. 893-898
    • Verma, I.C.1
  • 36
    • 0029677151 scopus 로고    scopus 로고
    • Optimal care for children with Down syndrome in India
    • Verma IC, Kabra M, Gangakhedkar AK (1996) Optimal care for children with Down syndrome in India. Indian J Pediatr 63: 121-126.
    • (1996) Indian J Pediatr , vol.63 , pp. 121-126
    • Verma, I.C.1    Kabra, M.2    Gangakhedkar, A.K.3
  • 37
    • 30444449370 scopus 로고    scopus 로고
    • Double aneuploidy in three Egyptian patients and Down-Klinefelter syndromes
    • Zaki MS, Kamal AA, Ei-Ruby M (2005) Double aneuploidy in three Egyptian patients and Down-Klinefelter syndromes. Genet Couns 16:393-402.
    • (2005) Genet Couns , vol.16 , pp. 393-402
    • Zaki, M.S.1    Kamal, A.A.2    Ei-Ruby, M.3


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